Publications by authors named "N Carboni"

Article Synopsis
  • * Researchers analyzed 202 MG patients from 2010 to 2019, finding that the incidence was 32.6/million and prevalence was 55.3/100,000, with the majority testing positive for acetylcholine receptor antibodies.
  • * The findings suggest that Sardinia has a higher prevalence of MG than the European average for rare diseases, highlighting the need to explore environmental and genetic factors contributing to this increased risk.
View Article and Find Full Text PDF

Background And Objectives: Hereditary spastic paraplegias (HSPs) are heterogenous genetic disorders characterized by progressive pyramidal tract involvement. SPG76 is a recently identified form of HSP, caused by biallelic calpain-1 (CAPN1) variants. The most frequently described MRI abnormality in SPG76 is mild cerebellar atrophy and non-specific white matter abnormalities were reported in only one case.

View Article and Find Full Text PDF
Article Synopsis
  • - The study focuses on spinal muscular atrophy (SMA), a genetic neurodegenerative disorder, aiming to determine its prevalence and treatment rates in Italy.
  • - An online survey was conducted across 36 Italian referral centers, revealing 1,255 SMA patients with an estimated prevalence of 2.12 per 100,000 people, categorized by SMA type and severity.
  • - Around 85% of patients received treatment, but the percentage varied by severity, showing higher treatment rates in more severe cases (95.77% for type I compared to 79.01% for type III).
View Article and Find Full Text PDF

Background And Purpose: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with limited treatment options. RNS60 is an immunomodulatory and neuroprotective investigational product that has shown efficacy in animal models of ALS and other neurodegenerative diseases. Its administration has been safe and well tolerated in ALS subjects in previous early phase trials.

View Article and Find Full Text PDF

Purpose: The management of tandem extracranial internal carotid artery and intracranial large vessel occlusion during endovascular thrombectomy (EVT) for acute ischemic stroke (AIS) has been under-investigated. We sought to investigate outcomes of AIS patients with tandem occlusion (TO) treated with carotid artery stenting (CAS) compared to those not treated with CAS (no-CAS) during EVT.

Methods: We performed a cohort study using data from AIS patients enrolled in the Italian Registry of Endovascular Treatment in Acute Stroke.

View Article and Find Full Text PDF